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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 3C

Congenital myasthenic syndrome 3C

Synonyms
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency

Summary

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS, CHRND
    Summary: cholinergic receptor nicotinic delta subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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